After your genome is sequenced, what do you do with the alphabet soup of results, most of which are unrelated to your medical condition?

Genome analysis startup Knome, based in Cambridge, MA, is introducing software that could help doctors make sense of your genome – by identifying genetic variations that are linked to diseases and responses to drugs.

Today, genome profiling has 2 main uses in the clinic: search for the cause of rare genetic diseases and generate tumor-specific profiles to help doctors discover the weaknesses of particular cancers.

The information could move beyond rare diseases and cancer in the next few years – helping to explain the origin of specific disease, save costs by allowing doctors to pretreat future diseases, or improve the effectiveness and safety of medications by allowing doctors to prescribe drugs tuned to your ability to metabolize drugs.

Teasing out the relevant genetic information from your genome – and finding the particular genetic variant that causes a specific disease or drug response – requires expertise from many disciplines and a lot of time.

A software package like Knome's can help whittle down the list based on factors such as disease type, the pattern of inheritance in a family, and the effects of given mutations on genes.

The greatest benefit of the widespread adoption of genomics in the clinic will come from the "clinical intelligence" doctors gain from networks of patient data, says Knome CEO Martin Tolar. Information about the association between certain genetic variants and disease or drug response could be anonymized and shared among large hospital networks. Knome's software will make it easy to share that kind of information, Tolar adds.

To keep the information private, the software runs within the clinic’s own network, rather than in the cloud.

Janet Fang has written for Nature, Discover and the Point Reyes Light. She is currently a lab technician at Lamont-Doherty Earth Observatory. She holds degrees from the University of California, Berkeley and Columbia University. She is based in New York.
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